@article {3602, title = {Clinical features and follow-up in patients with 22q11.2 deletion syndrome.}, journal = {J Pediatr}, volume = {164}, year = {2014}, month = {2014 Jun}, pages = {1475-80.e2}, abstract = {

OBJECTIVE: To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease.

STUDY DESIGN: A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis.

RESULTS: The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71\% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations (P = .015) and speech disorders (P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis.

CONCLUSIONS: Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.

}, keywords = {Abnormalities, Multiple, Adolescent, Adult, Age Factors, Child, Child, Preschool, Chromosomes, Human, Pair 22, Delayed Diagnosis, Developmental Disabilities, DiGeorge Syndrome, Disease Progression, Early Diagnosis, Female, Follow-Up Studies, Genetic Testing, Humans, Infant, Infant, Newborn, Male, Monitoring, Physiologic, Prospective Studies, Retrospective Studies, Risk Assessment, Severity of Illness Index, Sex Factors, Time Factors, Young Adult}, issn = {1097-6833}, doi = {10.1016/j.jpeds.2014.01.056}, author = {Cancrini, Caterina and Puliafito, Pamela and Digilio, Maria Cristina and Soresina, Annarosa and Martino, Silvana and Rondelli, Roberto and Consolini, Rita and Ruga, Ezia Maria and Cardinale, Fabio and Finocchi, Andrea and Romiti, Maria Luisa and Martire, Baldassarre and Bacchetta, Rosa and Albano, Veronica and Carotti, Adriano and Specchia, Fernando and Montin, Davide and Cirillo, Emilia and Cocchi, Guido and Trizzino, Antonino and Bossi, Grazia and Milanesi, Ornella and Azzari, Chiara and Corsello, Giovanni and Pignata, Claudio and Aiuti, Alessandro and Pietrogrande, Maria Cristina and Marino, Bruno and Ugazio, Alberto Giovanni and Plebani, Alessandro and Rossi, Paolo} } @article {1613, title = {Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.}, journal = {Clin Immunol}, volume = {139}, year = {2011}, month = {2011 Apr}, pages = {6-11}, abstract = {

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, (ii) polyendocrinopathy and/or hepatitis and (iii) dystrophy of the dental enamel and nails. We analyzed the AIRE (autoimmune regulator) gene in subjects who presented any symptom that has been associated with APECED, including candidiasis and autoimmune endocrinopathy. We observed that 83.3\% of patients presented at least two of the three typical manifestations of APECED, while the remaining 16.7\% of patients showed other signs of the disease. Analysis of the genetic diagnosis of these subjects revealed that a considerable delay occurs in the majority of patients between the appearance of symptoms and the diagnosis. Overall, the mean diagnostic delay in our patients was 10.2 years. These results suggest that molecular analysis of AIRE should be performed in patients with relapsing mucocutaneous candidiasis for early identification of APECED.

}, keywords = {Adolescent, Adult, Child, Child, Preschool, Heterozygote, Homozygote, Humans, Middle Aged, Mutation, Polyendocrinopathies, Autoimmune, Time Factors, Young Adult}, issn = {1521-7035}, doi = {10.1016/j.clim.2010.12.021}, author = {Mazza, Cinzia and Buzi, Fabio and Ortolani, Federica and Vitali, Alberto and Notarangelo, Lucia D and Weber, Giovanna and Bacchetta, Rosa and Soresina, Annarosa and Lougaris, Vassilios and Greggio, Nella A and Taddio, Andrea and Pasic, Srdjan and de Vroede, Monique and Pac, Malgorzata and Kilic, Sara Sebnem and Ozden, Sanal and Rusconi, Roberto and Martino, Silvana and Capalbo, Donatella and Salerno, Mariacarolina and Pignata, Claudio and Radetti, Giorgio and Maggiore, Giuseppe and Plebani, Alessandro and Notarangelo, Luigi D and Badolato, Raffaele} }